Publication Date

Spring 2015

Document Type

Project Summary

Degree Name

Doctor of Physical Therapy


Physical Therapy

First Advisor

Roberta O'Shea, PT, DPT, Ph.D.

Second Advisor

Sarah Bugajski, PT, DPT

Third Advisor

Russell E. Carter, PT, Ed.D.


Background & Purpose: There is little research surrounding Aicardi-Goutieres Syndrome (AGS) in all aspects of patient care, including physical therapy. AGS, a rare, early-onset, neurodegenerative disorder, includes symptoms of postnatal microcephaly, spasticity, muscle hypotonia, and developmental delay. The purpose of this study was to examine the effectiveness of a land and aquatic-based physical therapy treatment program for improving functional limitations and balance for a 6 year-old male referred to physical therapy for developmental delay secondary to an onset of AGS.

Case Description: This case study included a land and aquatic-based physical therapy treatment program focused on neuromuscular re-education, strengthening exercises, weight-bearing activities, and passive range of motion exercises in order to slow the patient’s decline of function. To measure the impact of the intervention the Pediatric Evaluation of Disability Inventory (PEDI) was used to measure capability and performance of selected functional activities within the domains of self-care, mobility, and social function. Balance was also observed in a variety of positions in order to determine how long a patient could maintain a given position unassisted.

Outcomes: The patient demonstrated an increase in his ability to sit unsupported in a tailored-sitting position from one second to five seconds. The patient also demonstrated a slight decrease in a few scores on the PEDI, including the Functional Skills domains of Mobility (20.9 to 18.2), Social Function (39.6 to 37.9), and the Caregiver Assistance domain of Social Function (20.4 to 11.3).

Discussion: The results from this case report demonstrated that a physical therapy treatment program may positively impact functional balance in a child with AGS, however it may not contribute to improvements in the patient’s ability to perform overall functional activities. Additional research could include longitudinal studies starting immediately post diagnosis of AGS, as children may live with the affects of AGS for several years post diagnosis.